ClinVar Miner

Submissions for variant NM_000558.5(HBA1):c.396T>C (p.Ser132=)

gnomAD frequency: 0.00085  dbSNP: rs149264789
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003103796 SCV000601193 likely benign not provided 2023-06-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003103796 SCV000603866 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979906 SCV004787992 likely benign HBA1-related condition 2020-01-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001834633 SCV002093864 uncertain significance alpha Thalassemia 2017-08-09 no assertion criteria provided clinical testing

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